Zellweger spectrum disorder: A cross-sectional study of symptom prevalence using input from family caregivers

Zellweger spectrum disorder: A cross-sectional study of symptom prevalence using input from family caregivers

Zellweger spectrum disorders (ZSD) are rare, debilitating genetic diseases of peroxisome biogenesis that affect multiple organ systems and present with broad clinical heterogeneity. Although many case studies have characterized the multitude of signs and symptoms associated with ZSD, there are few r...

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Bibliographic Details
Main Authors: Mousumi Bose, David D. Cuthbertson, Marsha A. Fraser, Jean-Baptiste Roullet, K. Michael Gibson, Dana R. Schules, Kelly M. Gawron, Melissa B. Gamble, Kathryn M. Sacra, Melisa J. Lopez, William B. Rizzo
Format: Article
Language:English
Published: Elsevier 2020-12-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Peroxisome biogenesis disorder
Rare disease
Surveys and questionnaires
Cross-sectional study
Symptom prevalence
Caregiver report
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426920301403

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http://www.sciencedirect.com/science/article/pii/S2214426920301403

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